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BET1L Bet1 golgi vesicular membrane trafficking protein like [ Homo sapiens (human) ]

Gene ID: 51272, updated on 3-Nov-2024

Summary

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Official Symbol
BET1Lprovided by HGNC
Official Full Name
Bet1 golgi vesicular membrane trafficking protein likeprovided by HGNC
Primary source
HGNC:HGNC:19348
See related
Ensembl:ENSG00000177951 MIM:615417; AllianceGenome:HGNC:19348
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as
GS15; BET1L1; GOLIM3; HSPC197
Summary
Enables SNAP receptor activity. Involved in regulation of retrograde vesicle-mediated transport, Golgi to ER and retrograde transport, endosome to Golgi. Located in Golgi apparatus and endosome. Implicated in uterine fibroid. Biomarker of endometrial adenocarcinoma. [provided by Alliance of Genome Resources, Nov 2024]
Expression
Ubiquitous expression in ovary (RPKM 28.0), thyroid (RPKM 22.6) and 25 other tissues See more
Orthologs
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Genomic context

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See BET1L in Genome Data Viewer
Location:
11p15.5
Exon count:
4
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 11 NC_000011.10 (202924..207399, complement)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 11 NC_060935.1 (244102..248598, complement)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (202924..207399, complement)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene secretoglobin family 1C member 1 Neighboring gene ciliary microtubule associated protein 1A Neighboring gene H3K4me1 hESC enhancer GRCh37_chr11:205815-206314 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:206625-207126 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2986 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:207673-208294 Neighboring gene H3K27ac hESC enhancer GRCh37_chr11:208295-208914 Neighboring gene H3K27ac-H3K4me1 hESC enhancer GRCh37_chr11:208989-209576 Neighboring gene RIC8 guanine nucleotide exchange factor A Neighboring gene microRNA 6743 Neighboring gene sirtuin 3 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 2989 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 4255

Genomic regions, transcripts, and products

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Go to nucleotide: Graphics FASTA GenBank

Expression

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  • Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
  • Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
  • BioProject: PRJEB4337
  • Publication: PMID 24309898
  • Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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Related articles in PubMed

  1. Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification. Li S, et al. Cancer Res, 2023 Jul 5. PMID 37115853
  2. Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet. Lee SC, et al. BMC Womens Health, 2022 Apr 27. PMID 35477381, Free PMC Article
  3. Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS. Lynch EM, et al. Exp Neurol, 2021 Nov. PMID 34310943, Free PMC Article
  4. COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex. Willett R, et al. Sci Rep, 2016 Jul 7. PMID 27385402, Free PMC Article
  5. Congenital disorder of glycosylation caused by starting site-specific variant in syntaxin-5. Linders PTA, et al. Nat Commun, 2021 Oct 28. PMID 34711829, Free PMC Article

See all (49) citations in PubMed

GeneRIFs: Gene References Into Functions

What's a GeneRIF?
  1. Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.
    Title: Genetic Modulation of BET1L Confers Colorectal Cancer Susceptibility by Reducing miRNA Binding and m6A Modification.
  2. Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.
    Title: Risk of uterine leiomyoma based on BET1L rs2280543 single nucleotide polymorphism and vegetarian diet.
  3. Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.
    Title: Transcriptome analysis using patient iPSC-derived skeletal myocytes: Bet1L as a new molecule possibly linked to neuromuscular junction degeneration in ALS.
  4. BET1L rs2280543 polymorphisms are associated with an increased risk of intracranial aneurysm.
    Title: Replication of GWAS Loci Revealed an Increased Risk of BET1L and H19 Polymorphisms with Intracranial Aneurysm.
  5. both BET1L and TNRC6B contributed to the risk of UL in Chinese women
    Title: Association of BET1L and TNRC6B with uterine leiomyoma risk and its relevant clinical features in Han Chinese population.
  6. COG sub-complexes are spatially separated on the Golgi with lobe A preferential localization on Golgi stacks and the presence of lobe B on vesicle-like structures, where it physically interacts with v-SNARE GS15.
    Title: COG lobe B sub-complex engages v-SNARE GS15 and functions via regulated interaction with lobe A sub-complex.
  7. single nucleotide polymorphisms in the BET1L gene is associated with uterine fibroid.
    Title: BET1L and TNRC6B associate with uterine fibroid risk among European Americans.
  8. Meta-analysis showed a strong association at blocked early in transport 1 homolog (BET1L) rs2280543 for intramural uterine fibroid type in european americans.
    Title: Variants in BET1L and TNRC6B associate with increasing fibroid volume and fibroid type among European Americans.
  9. Data suggest that GS15 exists in a distinct SNARE complex that contains syntaxin5, GS28, and Ykt6, and may be involved in both ER-to-Golgi and intra-Golgi transport.
    Title: GS15 forms a SNARE complex with syntaxin 5, GS28, and Ykt6 and is implicated in traffic in the early cisternae of the Golgi apparatus.
Submit: New GeneRIF Correction

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
A genome- and phenome-wide association study to identify genetic variants influencing platelet count and volume and their pleiotropic effects.
EBI GWAS Catalog
A genome-wide association study identifies three loci associated with susceptibility to uterine fibroids.
EBI GWAS Catalog
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium.
EBI GWAS Catalog
Genome-wide association study for intracranial aneurysm in the Japanese population identifies three candidate susceptible loci and a functional genetic variant at EDNRA.
EBI GWAS Catalog
Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture.
EBI GWAS Catalog

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Genotypes

Pathways from PubChem

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Interactions

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Products Interactant Other Gene Complex Source Pubs Description

General gene information

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Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables SNAP receptor activity IBA
Inferred from Biological aspect of Ancestor
more info
  
enables SNAP receptor activity IDA
Inferred from Direct Assay
more info
 PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
 PubMed 
Process Evidence Code Pubs
involved_in membrane fusion IEA
Inferred from Electronic Annotation
more info
  
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
  
involved_in regulation of retrograde vesicle-mediated transport, Golgi to ER IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in regulation of retrograde vesicle-mediated transport, Golgi to ER IMP
Inferred from Mutant Phenotype
more info
 PubMed 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
  
involved_in retrograde transport, endosome to Golgi IDA
Inferred from Direct Assay
more info
 PubMed 
Component Evidence Code Pubs
located_in Golgi apparatus IDA
Inferred from Direct Assay
more info
 PubMed 
located_in Golgi membrane TAS
Traceable Author Statement
more info
  
part_of SNARE complex IBA
Inferred from Biological aspect of Ancestor
more info
  
part_of SNARE complex TAS
Traceable Author Statement
more info
 PubMed 
located_in cytosol IEA
Inferred from Electronic Annotation
more info
  
located_in endosome IDA
Inferred from Direct Assay
more info
 PubMed 
located_in membrane HDA PubMed 

General protein information

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Preferred Names
BET1-like protein
Names
GOS-15
blocked early in transport 1 homolog-like
golgi SNARE 15 kDa protein
golgi SNARE with a size of 15 kDa
golgi integral membrane protein 3
vesicle transport protein GOS15

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

  1. NM_001098787.2 → NP_001092257.1  BET1-like protein isoform 1

    See identical proteins and their annotated locations for NP_001092257.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) encodes the longer isoform (1).
    Source sequence(s)
    BC008971, BX648752, DA875317, DA880679
    Consensus CDS
    CCDS41582.1
    UniProtKB/Swiss-Prot
    B3KMY0, Q9NYM9
    UniProtKB/TrEMBL
    E9PHY4
    Related
    ENSP00000372210.3, ENST00000382762.8
    Conserved Domains (1) summary
    cd15853
    Location:18 → 76
    SNARE_Bet1; SNARE motif of Bet1

  2. NM_016526.5 → NP_057610.2  BET1-like protein isoform 2

    See identical proteins and their annotated locations for NP_057610.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) lacks the 3' splice junction, which results in a different 3' coding sequence, compared to variant 1. The resulting isoform (2) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    BC032779, BX648752, DA875317, DA880679
    Consensus CDS
    CCDS7689.1
    UniProtKB/TrEMBL
    A0A0C4DH16
    Related
    ENSP00000339093.7, ENST00000325147.13
    Conserved Domains (1) summary
    cd15853
    Location:18 → 56
    SNARE_Bet1; SNARE motif of Bet1

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000011.10 Reference GRCh38.p14 Primary Assembly

    Range
    202924..207399 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060935.1 Alternate T2T-CHM13v2.0

    Range
    244102..248598 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Suppressed Reference Sequence(s)

The following Reference Sequences have been suppressed. Explain

  1. NM_016465.2: Suppressed sequence

    Description
    NM_016465.2: This RefSeq was permanently suppressed because it contains the wrong CDS and it is entirely 3' UTR.
Nucleotide Protein
Heading Accession and Version
Protein Accession Links
GenPept Link UniProtKB Link
Q9NYM9.1 GenPept UniProtKB/Swiss-Prot:Q9NYM9

Gene LinkOut

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